The heterogeneity of focal forms of congenital hyperinsulinism.

ABSTRACT:

Background

Congenital hyperinsulinism (CHI) is a cause of persistent hypoglycemia due to unregulated insulin secretion from pancreatic β-cells. Histologically, there are two major subgroups, focal and diffuse. Focal CHI is typically unresponsive to diazoxide and can be cured with surgical removal of the focal lesion.

Aims

We report on three patients with focal CHI to illustrate the marked clinical, genetic, radiological, and histological heterogeneity.

Methods and results

The first two patients had focal CHI due to a paternal (c.3992-9G→A) ABCC8 mutation. One of these patients was fully responsive to a small dose (5 mg/kg · d) of diazoxide, whereas the other patient was medically unresponsive. In both patients, the focal lesions were accurately localized preoperativel

SUBMITTER: Ismail D 

PROVIDER: S-EPMC7611920 | biostudies-literature | 2012 Jan

REPOSITORIES: biostudies-literature